Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis

Detalhes bibliográficos
Autor(a) principal: Freitas, Leonardo Furtado
Data de Publicação: 2021
Outros Autores: Barros, Gabriel Santaterra, Barletta, Enrico Affonso, De Araújo Coimbra, Pablo Picasso, Lourenço, Charles Marques, Ferreira, Paula Mendes
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.1055/s-0041-1731411
http://hdl.handle.net/11449/231476
Resumo: Chudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.
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spelling Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the DiagnosisChudley-McCullough syndromegenetic syndromeneuroradiologyChudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.Neuroradiology Department Beneficência Portuguesa de São Paulo HospitalPontifical Catholic University of Campinas São PauloNeuroradiology Department Antônio Prudente Hospital FortalezaNeurogenetic Department State University of São PauloPediatric Neurologist Department State University of São Paulo-Ribeirão PretoBeneficência Portuguesa de São Paulo HospitalUniversidade Estadual de Campinas (UNICAMP)Antônio Prudente Hospital FortalezaUniversidade de São Paulo (USP)Freitas, Leonardo FurtadoBarros, Gabriel SantaterraBarletta, Enrico AffonsoDe Araújo Coimbra, Pablo PicassoLourenço, Charles MarquesFerreira, Paula Mendes2022-04-29T08:45:35Z2022-04-29T08:45:35Z2021-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://dx.doi.org/10.1055/s-0041-1731411Journal of Pediatric Neurology.1305-06131304-2580http://hdl.handle.net/11449/23147610.1055/s-0041-17314112-s2.0-85110172647Scopusreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengJournal of Pediatric Neurologyinfo:eu-repo/semantics/openAccess2024-09-03T13:46:37Zoai:repositorio.unesp.br:11449/231476Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestrepositoriounesp@unesp.bropendoar:29462024-09-03T13:46:37Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
title Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
spellingShingle Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
Freitas, Leonardo Furtado
Chudley-McCullough syndrome
genetic syndrome
neuroradiology
title_short Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
title_full Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
title_fullStr Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
title_full_unstemmed Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
title_sort Chudley-McCullough Syndrome: Case Report and the Role of Neuroimaging to Suggest the Diagnosis
author Freitas, Leonardo Furtado
author_facet Freitas, Leonardo Furtado
Barros, Gabriel Santaterra
Barletta, Enrico Affonso
De Araújo Coimbra, Pablo Picasso
Lourenço, Charles Marques
Ferreira, Paula Mendes
author_role author
author2 Barros, Gabriel Santaterra
Barletta, Enrico Affonso
De Araújo Coimbra, Pablo Picasso
Lourenço, Charles Marques
Ferreira, Paula Mendes
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Beneficência Portuguesa de São Paulo Hospital
Universidade Estadual de Campinas (UNICAMP)
Antônio Prudente Hospital Fortaleza
Universidade de São Paulo (USP)
dc.contributor.author.fl_str_mv Freitas, Leonardo Furtado
Barros, Gabriel Santaterra
Barletta, Enrico Affonso
De Araújo Coimbra, Pablo Picasso
Lourenço, Charles Marques
Ferreira, Paula Mendes
dc.subject.por.fl_str_mv Chudley-McCullough syndrome
genetic syndrome
neuroradiology
topic Chudley-McCullough syndrome
genetic syndrome
neuroradiology
description Chudley-McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial disproportion, and brain abnormalities such as agenesis of the corpus callosum, polymicrogyria, ventriculomegaly, and changes in cerebellar architecture. We describe the case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation), who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Early recognition of this rare clinical syndrome may reduce the diagnostic odyssey and ultimately improve the quality of life for affected children. This report will focus on unique clinical and radiographic features of CMS.
publishDate 2021
dc.date.none.fl_str_mv 2021-01-01
2022-04-29T08:45:35Z
2022-04-29T08:45:35Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.1055/s-0041-1731411
Journal of Pediatric Neurology.
1305-0613
1304-2580
http://hdl.handle.net/11449/231476
10.1055/s-0041-1731411
2-s2.0-85110172647
url http://dx.doi.org/10.1055/s-0041-1731411
http://hdl.handle.net/11449/231476
identifier_str_mv Journal of Pediatric Neurology.
1305-0613
1304-2580
10.1055/s-0041-1731411
2-s2.0-85110172647
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Journal of Pediatric Neurology
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv Scopus
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv repositoriounesp@unesp.br
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